The article discusses the issues of changes in complaints and diseases of children, an increase in the frequency of functional disorders, migratory pains, increased fatigue, prolongation of the recovery period after viral infections, obesity, which is all typical for almost all countries with a high level of social development. The reasons can be external influences, a sedentary lifestyle, high loads, gadgets, but also excessive, frequent drug treatment. Perhaps the only way to counteract these negative influences is to restructure the minds of doctors and society, and to intensify the preventive care in pediatrics.

Эпидемиологическая ситуация по кори оставалась нестабильной в последние годы в России и в ряде других стран, сопровождалась подъемом заболеваемости в постковидном периоде, особенно в 2024 г. среди детей до 1 года, что является фактором риска развития крайней тяжелого и малокурабельного осложнения — коревого подострого склерозирующего панэнцефалита, как правило, манифестирующего неврологическими симптомами через 5–7 лет после перенесенной кори. Проведен анализ описательных и систематических научных литературных обзоров, а также других зарубежных и российских публикаций преимущественно за последние 10 лет, посвященных коревому подострому склерозирующему панэнцефалиту, вопросам этиологии, эпидемиологии, патогенеза и рисков развития после перенесенной кори, характерным клиническим симптомам, диагностическим критериям, а также методам лабораторной и инструментальной диагностики (электроэнцефалографии и магнитно-резонансная томографии). Представлены результаты международных исследований по оценке клинической эффективности различных схем терапии коревого подострого склерозирующего панэнцефалита у детей.

Idiopathic nephrotic syndrome in children is the most common glomerular disease in pediatric practice and frequently requires long-term immunosuppressive therapy because of steroid dependence and frequent relapses. Mycophenolate mofetil has emerged as a preferred steroid-sparing agent in international guidelines due to its favorable safety profile and proven efficacy in reducing relapse rates in steroid-dependent and frequently relapsing nephrotic syndrome in children. Its active metabolite, mycophenolic acid, exhibits marked interindividual pharmacokinetic variability influenced by age, serum albumin, kidney and liver function, concomitant therapies, and genetic factors, which underpins the need for therapeutic drug monitoring. This narrative review summarizes current evidence on the pharmacokinetics and pharmacodynamics of mycophenolic acid in pediatric nephrotic syndrome, focusing on target exposure parameters such as area under the concentration–time curve (AUC) and trough levels (C0) and their association with clinical efficacy and relapse risk. Particular attention is given to limited sampling strategies enabling reliable estimation of mycophenolic acid exposure from a small number of timed blood samples, as well as to population pharmacokinetic modeling as tools to individualize dosing in clinical practice. The potential role of inosine monophosphate dehydrogenase activity as a pharmacodynamic biomarker is discussed, and key gaps are highlighted, including the need for prospective trials to define optimal target exposure ranges for mycophenolic acid in children with steroid-dependent and frequently relapsing nephrotic syndrome.

Congenital heart defects occupy a leading position in the structure of infant mortality. Critical forms of congenital heart defects, without timely qualified medical care, result in death during the neonatal period, significantly impacting infant mortality rates.

Objective. To assess the morbidity rates of congenital malformations, including congenital anomalies of the circulatory system, the contribution of these conditions to the structure of infant mortality, and the factors potentially influencing the dynamics of their changes.

Materials and Methods. The study utilized statistical and informational materials characterizing morbidity and mortality among children with congenital malformations across the territories of the Russian Federation, as well as data on the volume of cardiac surgical interventions for congenital heart defects performed in medical organizations of the Russian Federation.

Results. The article presents epidemiological characteristics of congenital malformations in Russia during the period 2023–2025. The morbidity rate for congenital anomalies of the circulatory system among infants increased by 27.9 %, while infant mortality from these conditions decreased by 8.4 % (to 0.34 ‰). This trend is attributed to improvements in prenatal diagnosis, neonatal screening, and cardiac surgical care. A decline in case fatality rates for specific congenital heart defects was observed. The need for standardization of statistical record-keeping and more detailed ICD-10-based data classification is emphasized to enhance monitoring and inform management decision-making.

Conclusion. The establishment of a national registry of patients with congenital heart defects, which would ensure the collection of objective data on prevalence, subtypes of anomalies, and outcomes of surgical interventions, can be considered a key organizational tool for improving follow-up and rehabilitation strategies, rational allocation of budgetary resources, and reducing infant mortality from congenital heart defects.

From 2004 to 2006, a pilot project was carried out in 11 territories of the Russian Federation to test the method of active epidemiological surveillance, which makes it possible to identify the true number of measles patients among persons with maculopapular rash and fever, regardless of the primary diagnosis. Objective. To provide a clinical and epidemiological characterization of measles cases detected through active surveillance and to assess the quality of pre-hospital diagnosis. Materials and Methods. A retrospective analysis of data from 2017–2025 was conducted, including 1.691 epidemiological investigation forms for patients identified through active surveillance and 2.517 hospital records of inpatients. Laboratory verification was performed using immunoenzyme assay (IgM/IgG). Descriptive epidemiological and statistical methods were applied. Results. Active surveillance annually detected missed measles cases (ranging from 1 to 743 in different years). The average age of the patients was 22.5 years. At the pre-hospital stage, measles was not recognized in 37.7 % of hospitalized patients. Over 90 % of cases in recent years exhibited a typical clinical picture, indicating low clinical awareness among physicians. Complications were registered in 38–40 % of patients, with infants under one year of age remaining the most vulnerable group. Conclusions. The high proportion of typical measles cases among those missed indicates systemic deficiencies in clinical diagnosis. Continuous training of medical personnel, enhanced laboratory monitoring, and maintenance of high vaccination coverage are necessary maintain measles elimination status.

Diabetes mellitus is among the top ten causes of mortality in the general population worldwide. One of the important target organs in type 1 diabetes mellitus is the endothelium. Atherosclerotic changes can lead to increased stiffness of arterial walls. Higher arterial stiffness is an independent risk factor for cardiovascular complications and mortality in various population groups, including adults with type 1 diabetes mellitus.

Objective. To assess arterial stiffness parameters in children with type 1 diabetes mellitus in order to identify early signs of vascular remodeling.

Materials and methods. The study included 62 children with type 1 diabetes mellitus (mean age 11.15 ± 3.74 years) and 62 children in the control group. All participants underwent 24-hour ambulatory blood pressure monitoring with assessment of pulse wave velocity, augmentation index (AIx), ambulatory arterial stiffness index (AASI), and other parameters. The type 1 diabetes mellitus group was stratified by disease duration, glycated hemoglobin (HbA1c) level, and total cholesterol.

Results. Children with type 1 diabetes mellitus showed a statistically significant increase in all main arterial stiffness parameters compared with the control group. It was established that a longer disease duration (≥ 5 years) was associated with higher values of mean and maximum pulse wave velocity and of the ambulatory arterial stiffness index. Unsatisfactory glycemic control (HbA1c ≥ 7.1 %) and elevated total cholesterol (≥ 4.4 mmol/L) also had a statistically significant effect on increased vascular stiffness (p < 0.05).

Conclusion. Children with type 1 diabetes mellitus show an early and significant increase in arterial stiffness, indicating the onset of vascular remodeling. The identified dependence on disease duration, glycemic control, and dyslipidemia underscores the need for early monitoring of these parameters for timely prevention of cardiovascular complications.

Rhythm and conduction disorders remain key determinants of prognosis in hypertrophic cardiomyopathy.

Objective. To assess the nature, frequency, and clinical-prognostic significance of cardiac rhythm and conduction disorders in children with hypertrophic cardiomyopathy.

Materials and Methods. This retrospective-prospective study included 200 children with confirmed primary hypertrophic cardiomyopathy (median age 14.34 years; 2/3 male). Median follow-up was 5.74 years. Life-threatening arrhythmias were defined as sudden cardiac death, aborted sudden cardiac death, or appropriate implantable cardioverter-defibrillator therapy.

Results. Rhythm and conduction disorders were detected in 77 % of children. Ventricular extrasystole ≥ 10/24h was observed in 25.5 %, and non-sustained ventricular tachycardia in 20.5 %. Life-threatening arrhythmias occurred in 27 children (13.5 %): sudden cardiac death (n = 6), aborted sudden cardiac death (n = 11), and appropriate implantable cardioverter-defibrillator shocks for primary prevention (n = 10). Ventricular extrasystole 10–500/24h (OR 4.93; p = 0.00002) and ventricular extrasystole ≥ 500/24h (OR 6.84; p = 0.015) were associated with non-sustained ventricular tachycardia. Extreme myocardial hypertrophy increased the odds of non-sustained ventricular tachycardia 2.3-fold (p = 0.018). Sick sinus syndrome was diagnosed in 10.5 % of children and was a strong predictor of life-threatening arrhythmias (OR 5.18; p<0.001). Intraventricular conduction disturbances were noted in 54.5 %, first-degree atrioventricular block in 20 %, and supraventricular tachyarrhythmias in 5.5 %.

Conclusion. Hypertrophic cardiomyopathy is characterized by a high prevalence of rhythm and conduction disorders. Even moderate ventricular extrasystole is associated with non-sustained ventricular tachycardia, justifying routine Holter monitoring in all children with hypertrophic cardiomyopathy. Sick sinus syndrome is associated with a fivefold increased risk of life-threatening arrhythmias and should be incorporated into sudden cardiac death risk stratification algorithms. Such patients may warrant a lower 5-year sudden cardiac death risk threshold for dual-chamber cardioverter-defibrillator implantation.

The expansion of international tourism and increasing migration have led to a higher risk of the emergence and spread of various infectious diseases, including those that are not endemic to Russia. Therefore, studying the characteristics of infectious diseases in children and adults returning from international travel is of considerable importance.

Objective. To analyze the clinical and epidemiological characteristics of imported infectious diseases in children and adults after international travel.

Materials and Methods. We conducted a single-center retrospective cohort study at Infectious Clinical Hospital No. 1 of the Moscow Department of Health. Medical records of 2005 adults and 501 children who developed illness during or after international travel and were admitted to the hospital’s isolation ward after returning from abroad between 2009 and 2019 were retrospectively reviewed. Statistical analysis was performed using IBM SPSS Statistics version 26.0.

Results. The age of the study participants ranged from 1 month to 86 years. Among hospitalized patients, children 1–3 years accounted for the largest proportion (41.9 %). Children were hospitalized more frequently during the summer (176 cases, 35.1 %; p<0.001) and autumn (139 (27,7; 23,6-31,6), p<0,05), whereas adults were more commonly hospitalized in the winter (496 cases, 24.7 %; p<0.001) and in the spring (526 (26,2; 24,5–28,1), p<0,05). In the epidemiological history, travel to the Republic of Türkiye was most common among children (17.0 %), while travel to the Kingdom of Thailand predominated among adults (24.9 %). Compared with adults, children were more frequently diagnosed with enterovirus infection (37.0 % vs 19.2 %, p<0.001) among infections with a fecal-oral transmission route, and pertussis (1.5 % vs 0.1 %, p<0.05) among infections with an airborne transmission route. Among children, dengue fever was the most frequently diagnosed vector-borne infection (88.9 %).

Conclusion. We identified the epidemiological characteristics and etiological structure of imported infectious diseases and demonstrated seasonal, geographic, and nosological differences in infectious diseases among children compared with adults after international travel.

The quality of life of patients with congenital defects of immunity has become a subject of close attention in clinical practice. Children with primary immunodeficiencies experience substantial limitations in daily activities and require comprehensive care provided by a multidisciplinary team.

Objective. Assessment of quality of life profiles in children with congenital defects of immunity.

Materials and methods. A total of 68 children aged 2–18 years with congenital defects of immunity were enrolled in the study, including with combined immunodeficiencies (11.8 %), syndromic immunodeficiencies (33.9 %), predominantly antibody deficiencies (13.2 %), phagocytic disorders (14.7 %), hereditary angioedema (11.8 %), immune dysregulation disorders (7.3 %), and unclassified immunodeficiency (7.3 %). PedsQL 4.0 questionnaires were filled out by 50 children and 68 parents. A study of the physical, emotional, social, school, and psychosocial domains of quality of life was performed.

Results. Children with syndromic immunodeficiencies bear the greatest burden of the disease. In this group of patients, there are combined defects: delay in physical development, neurological and cognitive deficits, motor disorders and oncological diseases (p < 0.001–0.019). There is a decrease in the quality of life in all areas — physical activity, communication, school/kindergarten performance, psychosocial functioning. Patients with combined immunodeficiencies have satisfactory quality of life indicators, which is associated with the positive effect of hematopoietic stem cell transplantation. In groups with a high overall quality of life score (antibody defects, hereditary angioedema), satisfactory indicators of communication and physical activity are noted. The point of vulnerability in children with antibody defects is functioning in school / kindergarten, in patients with hereditary angioedema — a low emotional state. In the group with undifferentiated immunodeficiencies, a decrease in emotional state is observed.

Conclusion. The quality of life of children with primary immunodeficiencies depends on the type of immunological defect. The study results indicate the need to move from standard to personalized rehabilitation programs taking into account the vulnerability profiles of each category of patients.

Congenital central hypoventilation syndrome is a rare genetic disease manifested by hypoventilation mainly during sleep due to the lack of autonomic control over breathing, decreased sensitivity to hypercapnia and hypoxemia. The cause of the disease is a defect in the PHOX2B gene. The disease usually manifests in the first days of life. A familial case of congenital central hypoventilation syndrome in two brothers is described. In the older child, the diagnosis was verified at the age of 4 months, in the younger — at the age of 1 week. Prenatal fetoplacental insufficiency, low Apgar score at birth in the older child led to the suspicion of severe perinatal CNS damage of mixed hypoxic-infectious genesis. However, the long-term, difficult-to-treat respiratory failure syndrome, the constant need for respiratory support, and unsuccessful multiple attempts to transfer the patient to independent breathing led to the search for congenital central hypoventilation syndrome. The diagnosis was confirmed by a molecular genetic method. Both children are currently receiving respiratory support by phrenic nerve stimulation.Conclusion. In full-term newborns with ineffective respiratory rehabilitation in the absence of neuromuscular, respiratory, cardiac diseases or brainstem damage, it is advisable to exclude congenital central hypoventilation syndrome. Early diagnosis and implantation of a phrenic nerve stimulator improve the prognosis and quality of life of patients.

The increased frequency of testing has led to STXBP1 variants being identified as one of the variants associated with neurological disorders. We describe genotype-phenotype correlations of three patients with STXBP1-associated developmental and epileptic encephalopathy that we observed. Our observations confirmed that the onset of seizures in two patients in the neonatal period was similar to Ohtahara syndrome, while no seizures were recorded in one girl with severe psychoneurological deficit. The seizures required the use of three anticonvulsants, but severe cognitive and motor deficits persist as the child grows older. Conclusions. Patients with neonatal seizures resistant to AEDs and psychoneurological deficits should whole exome or whole genome sequencing to search STXBP1 variants.

Epilepsy in children is a heterogeneous group of diseases based on complex interactions of genetic, metabolic, and environmental factors. Of particular interest are the forms of epilepsy associated with mutations of sodium channel genes, in particular SCN1A, which determine the spectrum of disorders united by the concept of “genetic epilepsy with febrile seizures plus” (GEFS+). Despite the genetic nature of the syndrome, the course of the disease can be modified by additional triggers, including nutritional characteristics and the state of the intestinal microbiota. The article presents a clinical case of a 6-year-old boy with genetic epilepsy with febrile seizures plus (GEFS+) associated with the SCN1A mutation, in whom the course of the disease was complicated by primary lactase deficiency. The patient had pharmacoresistant convulsive activity with early onset and frequent afebrile seizures, despite combined antiepileptic therapy. An extended diagnostic search revealed a polymorphism of the MCM6 gene, confirming primary hypolactasia. Taking into account the correlation of exacerbations with the use of dairy products, their complete elimination was carried out, which led to a decrease in the frequency of seizures by more than 70% and an improvement in the cognitive and behavioral profile of the child. The case highlights the need for an interdisciplinary approach in treatment-resistant forms of epilepsy in children.

The analysis of Moscow “Algorithms for Emergency and Urgent Medical Care” for the main surgical pathologies causing acute abdominal syndrome in children was conducted. It was found that current emergency medical care algorithms for children with an acute abdomen (acute appendicitis, cholecystitis, pancreatitis, testicular torsion, and ovarian apoplexy) identify emergency medical evacuation to a hospital as the primary approach. In cases of refusal of hospitalization, the algorithms do not provide for further active patient monitoring and are limited to a recommendation to seek medical care at an outpatient clinic. An exception to these conditions is ovarian apoplexy, where the algorithm includes a repeat active call after 2 hours if hospitalization is refused. Two clinical cases of children with acute abdomen who were admitted to hospital after their parents initially refused hospitalization proposed by the ambulance team were analyzed. Both cases demonstrate that refusing urgent hospitalization leads to a dangerous delay in specialized surgical care, increasing the risk of destructive appendicitis and peritonitis. Thus, current treatment approach does not provide mechanisms for monitoring the condition of a child who remains at home after refusing hospitalization, despite the potentially life-threatening nature of the condition. We recommend incorporating a mandatory active monitoring of the child for 4–6 hours after refusing initial hospitalization in emergency care algorithms for acute appendicitis, acute cholecystitis, acute pancreatitis, and testicular torsion in children. This innovation will allow prompt hospitalization of the child if the condition worsens, minimize the time from the onset of symptoms to the provision of specialized surgical care, and prevent the development of severe purulent-inflammatory complications.

Patients with human immunodeficiency virus infection who have started antiretroviral therapy at advanced stages of the disease often develop immune reconstitution inflammatory syndrome. This process is associated with activation of the immune response, which can lead to uncontrolled inflammatory responses and, in some cases, the development of neoplastic diseases such as Kaposi’s sarcoma and non-Hodgkin’s lymphomas. In addition, lymphadenopathy that occurs within the framework of immune reconstitution inflammatory syndrome during cancer remission can be mistakenly interpreted as a relapse of a malignant tumor, which is an objective diagnostic complexity, especially given the possibility of the appearance of viral mutations that can reduce the effectiveness of the initial regimen and require treatment correction. In addition, patients with human immunodeficiency virus and developed immune reconstitution inflammatory syndrome may develop CNS lymphomas and cross-symptoms. The appearance of these complications against the background of immune reconstitution inflammatory syndrome requires careful differential diagnosis, since signs that can be interpreted as relapse of lymphoma can be caused precisely by inflammatory reactions or neurological symptoms associated with the reconstitution of the immune system. In this article, using the example of a clinical case and an analysis of the literature, we presented how immunological and virological changes caused by human immunodeficiency virus and antiretroviral therapy switching in a patient with lymphoma can lead to erroneous conclusions (relapse of lymphoma, development of an opportunistic infection), when only a detailed analysis of clinical, laboratory and instrumental data with the involvement of a multidisciplinary team of doctors allowed differential diagnosis of inflammatory and tumor processes associated with immune reconstitution inflammatory syndrome. It is important to note that dynamic monitoring of the viral load, instrumental control of the manifestations of the oncological process make it possible to correctly interpret possible changes and make the right clinical decisions.

Human motor functions are formed as a result of a dynamic interaction between the developing nervous system and the musculoskeletal system, the transition from spontaneous fetal movements to the control of upright posture and the development of locomotion. Careful analysis of these motor patterns in early ontogenesis can provide insight into the functional integrity of spinal and supraspinal networks and identify early developmental deviations in high-risk groups, such as preterm infants. The method of quantitative muscle activity analysis, based on the recording of electromyographic and kinematic parameters during spontaneous and passive limb movements, allows for an objective assessment of motor variability, inter-limb coordination, and neuromuscular activation. Using this method, we previously obtained quantitative characteristics and features of muscle reaction formation in term and preterm infants. In the present study, the capabilities of this method are illustrated through an individual clinical observation of a very preterm infant. Despite unfavorable initial clinical prerequisites – extremely low birth weight, pronounced morpho-functional immaturity, signs of periventricular leukomalacia on cranial ultrasound, and very slow motor skill acquisition significantly lagging behind corrected age norms–the application of an objective neurophysiological approach allowed for the prediction and tracking of positive dynamics and subsequent favorable development of motor functions. Thus, quantitative neurophysiological analysis of muscle activity enables an objective assessment of sensorimotor circuit maturation and holds clinical and prognostic significance.